Canonical Allele Identifier: CA461773489

Gene: PEX2

Linked Data

• ClinVar Variation Id: 504136
• ClinVar RCV Id: RCV000598973 ; RCV001275874 ; RCV001388280
• dbSNP Id: rs1235008965
• gnomAD v2: 8-77896104-A-AT
• gnomAD v3: 8-76983868-A-AT
• gnomAD v4: 8-76983868-A-AT
• MyVariant Identifiers: chr8:g.77896105dup (hg19) ; chr8:g.77896104_77896105insT (hg19) ; chr8:g.76983869dup (hg38) ; chr8:g.76983868_76983869insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983874dup , CM000670.2:g.76983874dup	GRCh38
NC_000008.10:g.77896110dup , CM000670.1:g.77896110dup	GRCh37
NC_000008.9:g.78058665dup	NCBI36
NG_008371.1:g.21420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.310dup MANE Select	ENSP00000349543.4:p.Ile104AsnfsTer19
ENST00000357039.8:c.310dup	ENSP00000349543.4:p.Ile104AsnfsTer19
ENST00000518986.5:c.310dup	ENSP00000429304.1:p.Ile104AsnfsTer19
ENST00000520103.5:c.310dup	ENSP00000428590.1:p.Ile104AsnfsTer19
ENST00000522527.5:c.310dup	ENSP00000428638.1:p.Ile104AsnfsTer19
NM_000318.2:c.310dup	NP_000309.1:p.Ile104AsnfsTer19
NM_001079867.1:c.310dup	NP_001073336.1:p.Ile104AsnfsTer19
NM_001172086.1:c.310dup	NP_001165557.1:p.Ile104AsnfsTer19
NM_001172087.1:c.310dup	NP_001165558.1:p.Ile104AsnfsTer19
NM_000318.3:c.310dup MANE Select	NP_000309.2:p.Ile104AsnfsTer19
NM_001079867.2:c.310dup	NP_001073336.2:p.Ile104AsnfsTer19
NM_001172086.2:c.310dup	NP_001165557.2:p.Ile104AsnfsTer19
NM_001172087.2:c.310dup	NP_001165558.2:p.Ile104AsnfsTer19